Canonical Allele Identifier: CA2171396509

Gene: THBS1

Linked Data

• dbSNP Id: rs1890093639
• gnomAD v4: 15-39581162-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581162C>G , CM000677.2:g.39581162C>G	GRCh38
NC_000015.9:g.39873363C>G , CM000677.1:g.39873363C>G	GRCh37
NC_000015.8:g.37660655C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-96C>G MANE Select	ENSP00000260356.5:n.-96C>G
ENST00000260356.5:c.-96C>G	ENSP00000260356.5:n.-96C>G
ENST00000397591.2:c.-217C>G	ENSP00000380720.2:n.-217C>G
NM_003246.2:c.-96C>G	NP_003237.2:n.-96C>G
NM_003246.3:c.-96C>G	NP_003237.2:n.-96C>G
XM_011521970.1:c.-217C>G	XP_011520272.1:n.-217C>G
XM_011521971.1:c.-96C>G	XP_011520273.1:n.-96C>G
XR_931897.1:n.80C>G
XM_011521971.2:c.-96C>G	XP_011520273.1:n.-96C>G
NM_003246.4:c.-96C>G MANE Select	NP_003237.2:n.-96C>G